Variant report

Variant	rs6794662
Chromosome Location	chr3:194867306-194867307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:194866949-194867768	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194865591..194868396-chr3:194874419..194877392,2	K562	blood:

Variant related genes	Relation type
XXYLT1-AS2	TF binding region
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12490970	0.94[ASN][1000 genomes]
rs12631534	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12633474	0.85[EUR][1000 genomes]
rs12634183	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7628353	0.89[ASN][1000 genomes]
rs9830280	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9841564	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
2	chr3:194841400-194868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:194846600-194868400	Weak transcription	HepG2	liver
4	chr3:194847200-194868200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:194852400-194868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:194854600-194868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:194854600-194868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:194854600-194871000	Weak transcription	Fetal Brain Female	brain
9	chr3:194854800-194868400	Weak transcription	NHLF	lung
10	chr3:194855400-194868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:194860400-194868200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:194860400-194868400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:194860600-194868400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:194860800-194870200	Weak transcription	Right Ventricle	heart
15	chr3:194861000-194881000	Weak transcription	Hela-S3	cervix
16	chr3:194861200-194872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:194861600-194870800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:194861800-194868200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:194861800-194868200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:194861800-194868200	Weak transcription	Adipose Nuclei	Adipose
21	chr3:194861800-194869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:194861800-194870800	Weak transcription	Aorta	Aorta
23	chr3:194861800-194871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:194861800-194871200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:194861800-194872800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:194861800-194875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:194862200-194868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:194862200-194869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:194862400-194870600	Weak transcription	Osteobl	bone
30	chr3:194862400-194897800	Weak transcription	Dnd41	blood
31	chr3:194862600-194869200	Weak transcription	Fetal Intestine Small	intestine
32	chr3:194862800-194868400	Weak transcription	Primary T cells from cord blood	blood
33	chr3:194863000-194868400	Weak transcription	Esophagus	oesophagus
34	chr3:194863000-194869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:194863000-194869400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:194863200-194867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:194863600-194868400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:194863800-194870200	Weak transcription	Ovary	ovary
39	chr3:194864000-194867600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:194864200-194868200	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:194864400-194870800	Weak transcription	Brain Angular Gyrus	brain
42	chr3:194864600-194868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:194864800-194867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:194864800-194868400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:194865000-194868200	Enhancers	Primary B cells from cord blood	blood
46	chr3:194865000-194868200	Enhancers	Primary hematopoietic stem cells	blood
47	chr3:194865000-194868200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:194865000-194871000	Enhancers	Fetal Thymus	thymus
49	chr3:194865400-194868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:194865600-194867800	Weak transcription	Primary monocytes fromperipheralblood	blood

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